{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T05:03:54Z","timestamp":1787288634721,"version":"build-2736575974"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for \u223c50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C\u2009&gt;\u2009T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.<\/jats:p>","DOI":"10.1055\/s-0039-1695056","type":"journal-article","created":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T19:27:45Z","timestamp":1567452465000},"page":"048-052","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation"],"prefix":"10.53391","volume":"09","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1717-2805","authenticated-orcid":false,"given":"Rosario","family":"Ramos Mej\u00eda","sequence":"additional","affiliation":[{"name":"Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Aza-Carmona","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain"},{"name":"Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain"},{"name":"CIBERER, ISCIII, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"del Pino","sequence":"additional","affiliation":[{"name":"Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain"},{"name":"Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain"},{"name":"CIBERER, ISCIII, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Fano","sequence":"additional","affiliation":[{"name":"Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriela","family":"Obregon","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2019,9,2]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1695056.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:45Z","timestamp":1758138345000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1695056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,2]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2020,1,22]]},"published-print":{"date-parts":[[2020,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1695056","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,2]]}}}